UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

A large fraction of DNA variants impairs pre-mRNA splicing in human hereditary disorders. Crigler-Najjar syndrome (CNS) is characterized by a severe unconjugated hyperbilirubinemia caused by variants in the UGT1A1 gene. We previously reported one CNS-type II patient with two splice-site variants in...

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Bibliographic Details
Main Authors:	Linda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Dmitrijs Rots, Madara Kreile, Eladio A. Velasco
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2020-03-01
Series:	Frontiers in Genetics
Subjects:	UGT1A1 unconjugated hyperbilirubinemia Crigler-Najjar aberrant splicing minigene splice site
Online Access:	https://www.frontiersin.org/article/10.3389/fgene.2020.00169/full

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